Variant report
Variant | nsv435787 |
---|---|
Chromosome Location | chr4:103325955-103332407 |
allele | n/a |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:3)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
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No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | rs576411666 | chr4:103325957-103325958 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
2 | rs192218887 | chr4:103325965-103325966 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
3 | rs566481781 | chr4:103325981-103325982 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
4 | rs538644169 | chr4:103325992-103325993 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
5 | rs1462944 | chr4:103326002-103326003 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
6 | rs62328473 | chr4:103326044-103326045 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
7 | rs72928338 | chr4:103326060-103326061 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
8 | rs545530669 | chr4:103326084-103326085 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
9 | rs1462945 | chr4:103326097-103326098 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
10 | rs13134240 | chr4:103326112-103326113 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
11 | rs543132050 | chr4:103326156-103326157 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
12 | rs561418927 | chr4:103326162-103326163 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
13 | rs557595346 | chr4:103326171-103326172 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
14 | rs76877526 | chr4:103326179-103326180 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
15 | rs78958132 | chr4:103326184-103326185 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
16 | rs4464574 | chr4:103326211-103326212 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
17 | rs530235751 | chr4:103326232-103326233 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
18 | rs72928340 | chr4:103326259-103326260 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
19 | rs560664316 | chr4:103326313-103326314 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
20 | rs184544339 | chr4:103326314-103326315 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
21 | rs575713095 | chr4:103326340-103326341 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
22 | rs1462946 | chr4:103326351-103326352 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
23 | rs546496039 | chr4:103326424-103326425 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
24 | rs552316534 | chr4:103326460-103326461 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
25 | rs564663570 | chr4:103326546-103326547 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
26 | rs188254903 | chr4:103326575-103326576 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
27 | rs531703023 | chr4:103326616-103326617 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
28 | rs550317884 | chr4:103326679-103326680 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
29 | rs140165248 | chr4:103326722-103326723 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
30 | rs111823684 | chr4:103326723-103326724 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
31 | rs536314056 | chr4:103326754-103326755 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
32 | rs568517723 | chr4:103326854-103326855 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
33 | rs373353606 | chr4:103326893-103326894 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
34 | rs535652998 | chr4:103326897-103326898 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
35 | rs148464609 | chr4:103326903-103326904 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
36 | rs553920869 | chr4:103326930-103326931 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
37 | rs565865923 | chr4:103326958-103326959 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
38 | rs181858743 | chr4:103327007-103327008 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
39 | rs73834800 | chr4:103327069-103327070 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
40 | rs12508086 | chr4:103327149-103327150 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | mRNA abundance |
41 | rs35467980 | chr4:103327178-103327179 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
42 | rs561303039 | chr4:103327181-103327182 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
43 | rs12508121 | chr4:103327207-103327208 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
44 | rs78146941 | chr4:103327226-103327227 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
45 | rs573392604 | chr4:103327228-103327229 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
46 | rs542106005 | chr4:103327255-103327256 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
47 | rs73834802 | chr4:103327261-103327262 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
48 | rs142604834 | chr4:103327329-103327330 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
49 | rs546490065 | chr4:103327343-103327344 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
50 | rs73837203 | chr4:103327375-103327376 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
Disease | PMID | Source |
---|---|---|
Acute lymphoblastic leukemia | 22237106 | CNVD |
Glioblastoma multiforme | 21080181 | CNVD |
Esophageal squamous carcinoma | 21637470 | CNVD |
Chordoma | 21602918 | CNVD |
HIV/AIDS | 22032296 | CNVD |
Medulloblastoma | 21979893 | CNVD |
Neuroblastoma | 18923191 | CNVD |
Thoracic aortic aneurysm | 21092924 | CNVD |
Intellectual disability | 22102821 | CNVD |
Autism | 22495311 | CNVD |
Breast cancer | 21858162 | CNVD |
Small bowel adenocarcinoma | 21586687 | CNVD |
Gastric cancer | 21586687 | CNVD |
Basal cell lymphoma | 16317097 | CNVD |
Diffuse large b-cell lymphoma | 16317097 | CNVD |
Melanoma | 18172304 | CNVD |
Acute lymphoblastic leukemia | 20067559 | CNVD |
Breast cancer | 17603634 | CNVD |
Hepatocellular carcinoma | 16750200 | CNVD |
Myxofibrosarcoma | 16751306 | CNVD |
Esophageal squamous carcinoma | 18350619 | CNVD |
Breast cancer | 16272173 | CNVD |
Colorectal cancer | 19359472 | CNVD |
Malignant mesothelioma | 18160781 | CNVD |
Medulloblastoma | 18056178 | CNVD |
Multiple myeloma | 17077331 | CNVD |
Pleural malignant mesothelioma | 18160781 | CNVD |
Primary mediastinal b-cell lymphoma | 17728785 | CNVD |
Oral squamous cell carcinoma | 17134496 | CNVD |
4q-syndrome | 17576883 | CNVD |
Cancer | 21637783 | CNVD |
Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
Colorectal cancer | 20709793 | CNVD |
Muscular dystrophy | 21149563 | CNVD |
Endometrial cancer | 22040021 | CNVD |
Breast cancer | 21264507 | CNVD |
Glioblastoma multiforme | 19960244 | CNVD |
Glioblastoma multiforme | 17387387 | CNVD |
Hepatocellular carcinoma | 22174799 | CNVD |
Liposarcoma | 21253554 | CNVD |
Oligodendroglial tumors | 17285580 | CNVD |
Cervical cancer | 21062161 | CNVD |
Metanephric adenoma | 20802469 | CNVD |
Breast cancer | 16608533 | CNVD |
Adenoid cystic carcinoma | 18698036 | CNVD |
Lung cancer | 19208797 | CNVD |
Wilms tumour | 21544195 | CNVD |
Breast cancer | 21785460 | CNVD |
Myelodysplastic syndrome | 21251322 | CNVD |
Lung cancer | 18438408 | CNVD |
Cancer | 22429812 | CNVD |
Acute lymphoblastic leukemia | 20435627 | CNVD |
Cancer | 21183584 | CNVD |
primary effusion lymphomas | 17116491 | CNVD |
small cell lung cancer | 20016488 | CNVD |
Splenic marginal zone lymphoma | 21957467 | CNVD |
Breast cancer | 17133270 | CNVD |
T-cell prolymphocytic leukemia | 19278963 | CNVD |
Colorectal cancer | 20459617 | CNVD |
High-grade prostatic intraepithelial neoplasia | 16573809 | CNVD |
Endometrioid adenocarcinoma | 16974079 | CNVD |
Congenital anomalies of the kidney and urinary tract | 20505237 | CNVD |
Breast cancer | 17393978 | CNVD |
Ovarian cancer | 21720365 | CNVD |
Hodgkin''s lymphoma | 17606441 | CNVD |
Esophageal cancer | 21851588 | CNVD |
Prostate cancer | 16573809 | CNVD |
Multiple myeloma | 16616336 | CNVD |
Melanoma | 20688739 | CNVD |
Breast cancer | 16397240 | CNVD |
Acute myeloid leukemia | 18000384 | CNVD |
Cutaneous T-cell lymphoma | 21881587 | CNVD |
Myelofibrosis | 22110671 | CNVD |
myeloid cancer | 21057493 | CNVD |
Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
Pancreatic cancer | 17952125 | CNVD |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr4:103317200-103327400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
2 | chr4:103323400-103328400 | Weak transcription | Psoas Muscle | Psoas |
3 | chr4:103323800-103326200 | Enhancers | Primary monocytes fromperipheralblood | blood |
4 | chr4:103325000-103341600 | Weak transcription | H1 BMP4 Derived Mesendoderm Cultured Cells | ES cell derived |
5 | chr4:103325200-103327400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
6 | chr4:103325600-103328600 | Enhancers | Hela-S3 | cervix |
7 | chr4:103325800-103326400 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
8 | chr4:103325800-103326400 | Enhancers | Monocytes-CD14+_RO01746 | blood |
9 | chr4:103327400-103327600 | Enhancers | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
10 | chr4:103327400-103332200 | Weak transcription | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
11 | chr4:103327800-103328000 | Enhancers | Monocytes-CD14+_RO01746 | blood |
12 | chr4:103328000-103328200 | Enhancers | Primary monocytes fromperipheralblood | blood |
13 | chr4:103328000-103332200 | Weak transcription | Monocytes-CD14+_RO01746 | blood |
14 | chr4:103328200-103332200 | Weak transcription | Primary monocytes fromperipheralblood | blood |
15 | chr4:103328400-103328600 | Enhancers | Psoas Muscle | Psoas |
16 | chr4:103328600-103332200 | Weak transcription | Hela-S3 | cervix |
17 | chr4:103332200-103332600 | Enhancers | Monocytes-CD14+_RO01746 | blood |
18 | chr4:103332200-103333400 | Enhancers | Mesenchymal Stem Cell Derived Adipocyte Cultured Cells | ES cell derived |
19 | chr4:103332200-103333600 | Enhancers | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
20 | chr4:103332200-103333600 | Enhancers | Primary monocytes fromperipheralblood | blood |
21 | chr4:103332200-103333600 | Enhancers | Hela-S3 | cervix |
22 | chr4:103332200-103333600 | Enhancers | NHDF-Ad | bronchial |
23 | chr4:103332400-103333000 | Enhancers | Primary neutrophils fromperipheralblood | blood |